Research Projects

CENTOGENE’s devotion to reducing the impact of rare diseases extends far beyond cutting edge diagnostics into the realms of fundamental research. This is a space where we can enhance knowledge and find solutions. 

Navigating through these metabolic disorders at the subcellular level our research aims to understand
organelles at the core of the pathogenesis, develop novel biomarkers and uncover potential drug targets.

Disseminating this knowledge to clinicians and patients empowers them to seek the latest available
diagnostics, biomarkers & therapies,to monitor and manage various inherited metabolic disorders.
CENTOGENE embraces the vision of patient engagement in healthcare decisions, as we move further into the era of personalized medicine.

Gaining strength in numbers we unite with research scientists in Universities across the globe, reaching out from Germany (Rostock, Lübeck, Freiburg) to connect with the USA, the Middle East, Australia and other regions of the globe. These coordinated projects involve hundreds of patients affected with disorders like Fabry, Pompe, Krabbe, various forms of mucopolysacharoidoses and others. Such international
collaborations yield a rich harvest of genetic and biochemical test results which are used to map out
phenotype-genotype correlations and improve the accuracy of diagnostics & prognostics. One example is a current study on methyl malonic academia involving a network of Iranian hospitals. With the first phase of MUT gene analysis complete, a new group of patients are benefiting from cutting edge diagnostic testing (without payment), whilst contributing to the body of knowledge which will ultimately improve the lives of
fellow patients worldwide.

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